The diagnostic quandary of hereditary haemorrhagic telangiectasia vs. CREST syndrome

Authors: Lee J.B.; Ben-Aviv D.1; Covello S.P.2

Source: British Journal of Dermatology, Volume 145, Number 4, October 2001 , pp. 646-649(4)

Publisher: Blackwell Publishing

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Abstract:

The distribution and clinical appearance of the telangiectasia in the CREST syndrome (calcinosis, Raynaud’s phenomenon, oesophageal involvement, sclerodactyly, telangiectasia) and hereditary haemorrhagic telangiectasia (HHT) are very similar. Several previously reported cases of the CREST syndrome simulating HHT illustrate this diagnostic quandary. We report a patient who met the diagnostic criteria for both the CREST syndrome and HHT, and discuss the distinguishing features of the two diseases, including the distinctive histopathological findings of telangiectasia in HHT.

Keywords: CREST syndrome; hereditary haemorrhagic telangiectasia; Rendu–Osler–Weber syndrome

Document Type: Research article

DOI: 10.1046/j.1365-2133.2001.04462.x

Affiliations: 1: Montefiore Medical Center, 111 East 210th Street, Bronx, NY 10467, U.S.A. 2: Jefferson Dermatology, Suite 500, 211 South 9th Street, Philadelphia, PA 19107, U.S.A.

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